When/how can I find out if my kids have PKD?

Do you have a young child or teenager with ARPKD or ADPKD? Talk to other parents who are caring for children with PKD.
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When/how can I find out if my kids have PKD?

Postby rollinke » Thu May 21, 2015 2:02 pm

My husband had PKD and had known about it since his late teens. He is 37 and just had a transplant 6 months ago. We have two children ages 6 and 8 and I am wondering when we could get them tested for PKD. Other than genetic testing, which is quite expensive, what are the options for finding out?

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Re: When/how can I find out if my kids have PKD?

Postby Moderator » Sat Oct 10, 2015 8:36 am

Thank you for your post. Below, you will find commonly asked questions and answers on this topic taken from the Learn section of pkdcure.org.

How is PKD diagnosed?
A physician is alerted to the possibility of ADPKD in three different settings: when someone reports that there is a family history of ADPKD, when there are signs and symptoms that commonly occur in ADPKD, or when a test is done for some other reason and cysts are found in the kidney.

Currently, there are three main clinical tests that can be used to diagnose a person with PKD: ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI).

Ultrasound is the most common and least costly screening method for ADPKD. A recent research study has produced diagnostic criteria that are useful for testing individuals having either the PKD1 or PKD2 mutation in the usual clinical setting in which molecular genotyping is seldom performed. To read a medical publication on this topic – which can also be printed and taken to your doctor – click here, http://pkdcure.org/document.doc?id=90.

Computed tomography (CT) and MRI scans are likely to be more sensitive than ultrasound but the sensitivity of these methods have not been systematically analyzed yet. CT scans, however, involve radiation and may also require iodinated contrast dye which can be toxic to the kidneys. CT scans or MRIs may be indicated for the evaluation of certain complications like bleeding into a cyst or a suspected kidney stone or alternatively if a more sensitive screening test with the ability to detect small cysts is deemed necessary.

DNA testing is available for ADPKD. There are two types of DNA tests: Gene linkage testing and Direct Mutation analysis. Gene linkage can determine ADPKD status with a 99 percent probability in informative families. Linkage testing is not a direct analysis of the DNA sequence of the PKD1 and PKD2 genes. Rather, it relies on the identification of certain "markers" in the DNA of several members of a family in which PKD has been diagnosed. For linkage analysis, blood samples must be obtained from the person being tested (the "proband") as well as from several (typically three or more including the proband) persons from more than one generation of the proband's family, including those affected and unaffected with ADPKD. A detailed family history and pedigree are also required. The results are typically reported to all family members that provided blood samples for the analysis.

In contrast, direct DNA sequencing requires only a single sample from the proband. This method is a direct analysis of the DNA sequences of the PKD1 and PKD2 genes. It is private, and the results are only reported to the proband's physician and the patient (the proband). Using very sophisticated DNA sequencing apparatus, each of the nearly 17,000 "bases" of DNA are analyzed and the entire sequence is thus determined. This method is capable of identifying those changes in the sequence that are indicative of disease. It may be the only option if family members are unavailable or unwilling to participate in a linkage study. Each of these methods has pros and cons and the it can be costly to the patient.

Should I have genetic testing done? Do my children need it?
This is a difficult question without a straightforward answer. There are treatable complications that are undetected in almost 60% of patients due to ADPKD. Complications include hypertension, urinary tract infections and hematuria or blood in the urine. These conditions contribute to disease progression in ADPKD. However, a diagnosis of an inherited kidney disease can limit access to life insurance coverage and for those whose employment provides excellent health insurance coverage, a diagnosis can alter a decision regarding change of employment. These issues can have an impact with regard to undergoing screening for a diagnosis of ADPKD.

An alternative to undergoing screening for a diagnosis of ADPKD is that at-risk individuals can practice "universal precautions", i.e., assume that everyone at risk has ADPKD and treat accordingly. This would include having a home blood pressure measuring device, having a physician obtain blood pressure measurements and check urinalyses regularly, and having blood work done to measure kidney function. Should symptoms develop, such as flank pain, back pain, pain with urination, or blood in the urine, referral to a nephrologist is recommended. Importantly, the field of scientific investigation in ADPKD is making tremendous progress, and, at the current pace we are rapidly developing an increased understanding of the PKD genes and their protein products. This will hopefully spur development of specific therapies for ADPKD. . Those diagnosed early with ADPKD would benefit the most from such therapies. All of these issues make this decision a case-by-case and year-by-year consideration. It is worthwhile to discuss all questions and concerns with your health care provider before proceeding with a screening test for the presence of ADPKD
To learn more, visit pkdcure.org! If you have questions, please email education@pkdcure.org.

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